Canonical Allele Identifier: CA393995050

Gene: HBA1

Linked Data

• MyVariant Identifiers: chr16:g.226934C>A (hg19) ; chr16:g.176935C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.176935C>A , CM000678.2:g.176935C>A	GRCh38
NC_000016.9:g.226934C>A , CM000678.1:g.226934C>A	GRCh37
NC_000016.8:g.166934C>A	NCBI36
NG_000006.1:g.37798C>A
NG_059186.1:g.5285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320868.9:c.102C>A MANE Select	ENSP00000322421.5:p.Phe34Leu
ENST00000397797.1:c.6C>A	ENSP00000380899.1:p.Phe2Leu
ENST00000472694.1:n.238C>A
ENST00000487791.1:n.71C>A
NM_000558.4:c.102C>A	NP_000549.1:p.Phe34Leu
NM_000558.5:c.102C>A MANE Select	NP_000549.1:p.Phe34Leu